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Gene | PTEN |
Variant | R335* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN R335* results in a premature truncation of the Pten protein at amino acid 335 of 403 within the C2 tensin-type domain (UniProt.org). R335* results in increased transformation ability in two different cell lines (PMID: 29533785), demonstrates reduced Pten protein stability, and fails to suppress Akt phosphorylation in cell culture, and delays developmental growth in flies (PMID: 32350270), and fails to suppress transcription of E2f1-regulated genes in culture (PMID: 29108454). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN R335* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961095C>T |
cDNA | c.1003C>T |
Protein | p.R335* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87961095C>T | c.1003C>T | p.R335* | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87961095C>T | c.1003C>T | p.R335* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87961095C>T | c.1003C>T | p.R335* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN R335* | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |